Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
7. DNA and Chromosome Structure
Eukaryotic Chromosome Structure
2:24 minutes
Problem 30b
Textbook Question
Textbook QuestionBecause of its rapid turnaround time, fluorescent in situ hybridization (FISH) is commonly used in hospitals and laboratories as an aneuploid screen of cells retrieved from amniocentesis and chorionic villus sampling (CVS). Chromosomes 13, 18, 21, X, and Y (see Chapter 8) are typically screened for aneuploidy in this way. Explain how FISH might be accomplished using amniotic or CVS samples and why the above chromosomes have been chosen for screening.
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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Fluorescent In Situ Hybridization (FISH)
FISH is a molecular cytogenetic technique that uses fluorescent probes to bind to specific chromosome regions, allowing visualization of chromosomal abnormalities. In the context of amniotic fluid or CVS samples, FISH can quickly identify the presence or absence of specific chromosomes, making it a valuable tool for detecting aneuploidies, such as trisomy or monosomy.
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Aneuploidy
Aneuploidy refers to an abnormal number of chromosomes in a cell, which can lead to genetic disorders. Common aneuploidies include trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome). The chromosomes 13, 18, 21, X, and Y are screened because abnormalities in these chromosomes are associated with significant developmental and health issues, making early detection crucial.
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Amniocentesis and Chorionic Villus Sampling (CVS)
Amniocentesis and CVS are prenatal diagnostic procedures used to obtain fetal cells for genetic analysis. Amniocentesis involves extracting amniotic fluid, while CVS involves sampling placental tissue. Both methods provide valuable samples for FISH testing, enabling the assessment of chromosomal abnormalities in the fetus, which can inform parental decision-making and management of potential genetic conditions.
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